ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)

dbSNP: rs397508615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577368 SCV000798462 likely pathogenic Cystic fibrosis 2018-03-12 criteria provided, single submitter clinical testing
Mendelics RCV000577368 SCV000886333 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000577368 SCV002623584 pathogenic Cystic fibrosis 2015-08-19 criteria provided, single submitter clinical testing The p.Q1281* variant (also known as c.3841C>T, c.3973C>T or p.Q1281X) located in coding exon 23 of the CFTR gene, results from a C to T substitution at nucleotide position 3841. This changes the amino acid from a glutamine to a stop codon within coding exon 23. This pathogenic alteration was observed in trans with deltaF508 in a patient with severe disease, including pancreatic and lung involvement (Casals T et al. Hum Genet. 1997;101(3):365-370). In addition to the clinical data, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577368 SCV000679091 not provided Cystic fibrosis no assertion provided literature only

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